Recombinant人ARSA protein (ab116932)

概述

描述

  • 性质Recombinant
  • 来源Wheat germ
  • 氨基酸序列
    • AccessionP15289
    • 种属Human
    • 序列FFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAG ATPEVQQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRP ACCHCPDPHA
    • 分子量38 kDa including tags
    • 氨基酸398 to 507

技术指标

Our Abpromise guarantee covers the use of ab116932 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • 应用

    ELISA

    SDS-PAGE

    Western blot

  • 形式Liquid
  • 补充说明Protein concentration is above or equal to 0.05 mg/ml.
    Best use within three months from the date of receipt of this protein.
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

常规信息

  • 别名
    • arsA
    • ARSA_HUMAN
    • arylsulfatase A
    • Arylsulfatase A component C
    • As 2
    • AS A
    • As2
    • ASA
    • AW212749
    • C230037L18Rik
    • Cerebroside-sulfatase
    • metachromatic leucodystrophy
    • MGC125207
    • MLD
    • OTTHUMP00000196546
    • OTTHUMP00000196548
    • TISP73
    see all
  • 功能Hydrolyzes cerebroside sulfate.
  • 疾病相关Defects in ARSA are a cause of leukodystrophy metachromatic (MLD) [MIM:250100]. MLD is a disease due to a lysosomal storage defect. It is characterized by intralysosomal storage of cerebroside-3-sulfate in neural and non-neural tissues, with a diffuse loss of myelin in the central nervous system. Progressive demyelination causes a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Three forms of the disease can be distinguished according to the age at onset: late-infantile, juvenile and adult.
    Arylsulfatase A activity is defective in multiple sulfatase deficiency (MSD) [MIM:272200]. MSD is a disorder characterized by decreased activity of all known sulfatases. MSD is due to defects in SUMF1 resulting in the lack of post-translational modification of a highly conserved cysteine into 3-oxoalanine. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay.
  • 序列相似性Belongs to the sulfatase family.
  • 翻译后修饰The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. This post-translational modification is severely defective in multiple sulfatase deficiency (MSD).
  • 细胞定位Lysosome.
  • Information by UniProt

Recombinant Human ARSA protein 图像

  • 12.5% SDS-PAGE stained with Coomassie Blue showing ab116932 at approximately 37.73 kDa.

Recombinant Human ARSA protein (ab116932)参考文献

ab116932 has not yet been referenced specifically in any publications.

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